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by Shashi, Vandana and Schoch, Kelly and Spillmann, Rebecca and Cope, Heidi and Tan, Queenie K.-G and Walley, Nicole and Pena, Loren and McConkie-Rosell, Allyn and Jiang, Yong-Hui and Stong, Nicholas and Need, Anna C and Goldstein, David B and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Herzog, Matthew R and Holm, Ingrid A and Hom, Jason and Howerton, Ellen M and Huang, Yong and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Lau, C. Christopher and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Genetics in medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 161 - 172
Journal Article
by Wang, Julia and Al-Ouran, Rami and Hu, Yanhui and Kim, Seon-Young and Wan, Ying-Wooi and Wangler, Michael F and Yamamoto, Shinya and Chao, Hsiao-Tuan and Comjean, Aram and Mohr, Stephanie E and Perrimon, Norbert and Liu, Zhandong and Bellen, Hugo J and Adams, Christopher J and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mashid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan H and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Boone, Braden E and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chao, Katherine R and Clark, Gary D and Cogan, Joy D and Cooper, Cynthia M and Craigen, William J and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Esteves, Cecilia and Estwick, Tyra and Fisher, Paul G and Frisby, Trevor S and Frost, Kate and Gahl, William A and Gartner, Valerie and Godfrey, Rena A and Goheen, Mitchell and Golas, Gretchen A and Goldstein, David B and Gordon, Mary G and Gould, Sarah E and Gourdine, Jean-Philippe F and Graham, Brett H and Groden, Catherine A and Gropman, Andrea L and Hackbarth, Mary E and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Hardee, Isabel and Herzog, Matthew R and Holm, Ingrid A and Howerton, Ellen M and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koehler, Alanna E and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Latham, Lea and Latour, Yvonne L and Lau, C. Christopher and Lazar, Jozef and Lee, Brendan H and Lee, Hane and Lee, Paul R and Levy, Shawn E and Levy, Denise J and ... and UDN
American journal of human genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, pp. 843 - 853
One major challenge encountered with interpreting human genetic variants is the limited understanding of the functional impact of genetic alterations on... 
rare diseases | genetic diseases | Diopt | Geno2MP | ExAC | Zfin | variants of unknown significance | FlyBase | MGI | ClinVar | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Databases, Genetic | Software | Genome, Human | Humans | Molecular Sequence Annotation | Genetic research | Technology application | Research | Genetic variation | Index Medicus
Journal Article
Genetics (Austin), ISSN 1943-2631, 09/2017, Volume 207, Issue 1, pp. 9 - 27
Journal Article
by Marcogliese, Paul C and Shashi, Vandana and Spillmann, Rebecca C and Stong, Nicholas and Rosenfeld, Jill A and Koenig, Mary Kay and Martínez-Agosto, Julián A and Herzog, Matthew and Chen, Agnes H and Dickson, Patricia I and Lin, Henry J and Vera, Moin U and Salamon, Noriko and Graham, John M and Ortiz, Damara and Infante, Elena and Steyaert, Wouter and Dermaut, Bart and Poppe, Bruce and Chung, Hyung-Lok and Zuo, Zhongyuan and Lee, Pei-Tseng and Kanca, Oguz and Xia, Fan and Yang, Yaping and Smith, Edward C and Jasien, Joan and Kansagra, Sujay and Spiridigliozzi, Gail and El-Dairi, Mays and Lark, Robert and Riley, Kacie and Koeberl, Dwight D and Golden-Grant, Katie and Callens, Steven and Coucke, Paul and Dermaut, Bart and Hemelsoet, Dimitri and Poppe, Bruce and Steyaert, Wouter and Terryn, Wim and Van Coster, Rudy and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dillon, Ani and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Ferreira, Carlos and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and ... and Program for Undiagnosed Diseases (UD-PrOZA) and Undiagnosed Diseases Network and Undiagnosed Dis Network and Program Undiagnosed Dis UD-PrOZA
American journal of human genetics, ISSN 0002-9297, 08/2018, Volume 103, Issue 2, pp. 245 - 260
Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological... 
CG11138 | ataxia | Drosophila | neurodegeneration | seizures | C3HC4 RING finger | developmental regression | pits | EAP1 | hypotonia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Physiological aspects | Nervous system | Development and progression | Genetic aspects | Degeneration | Research | Binding proteins
Journal Article
by Machol, Keren and Rousseau, Justine and Ehresmann, Sophie and Garcia, Thomas and Nguyen, Thi Tuyet Mai and Spillmann, Rebecca C and Sullivan, Jennifer A and Shashi, Vandana and Jiang, Yong-hui and Stong, Nicholas and Fiala, Elise and Willing, Marcia and Pfundt, Rolph and Kleefstra, Tjitske and Cho, Megan T and McLaughlin, Heather and Rosello Piera, Monica and Orellana, Carmen and Martínez, Francisco and Caro-Llopis, Alfonso and Monfort, Sandra and Roscioli, Tony and Nixon, Cheng Yee and Buckley, Michael F and Turner, Anne and Jones, Wendy D and van Hasselt, Peter M and Hofstede, Floris C and van Gassen, Koen L.I and Brooks, Alice S and van Slegtenhorst, Marjon A and Lachlan, Katherine and Sebastian, Jessica and Madan-Khetarpal, Suneeta and Sonal, Desai and Sakkubai, Naidu and Thevenon, Julien and Faivre, Laurence and Maurel, Alice and Petrovski, Slavé and Krantz, Ian D and Tarpinian, Jennifer M and Rosenfeld, Jill A and Lee, Brendan H and Campeau, Philippe M and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dillon, Ani and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Ferreira, Carlos and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and ... and Undiagnosed Diseases Network and Undiagnosed Dis Network
American journal of human genetics, ISSN 0002-9297, 01/2019, Volume 104, Issue 1, pp. 164 - 178
Journal Article